| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
0.440 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.400 | GeneticVariation | CLINVAR | We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. | 27640307 | 2016 |
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|
|
0.400 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.400 | CausalMutation | CLINVAR | Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. | 29571850 | 2018 |
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|
|
0.120 | CausalMutation | CLINVAR | Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. | 27551684 | 2016 |
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|
|
0.120 | GeneticVariation | CLINVAR | Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. | 27551684 | 2016 |
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|
|
0.110 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. | 27668699 | 2017 |
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|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.500 | Biomarker | HPO | |||||||||||
|
|
0.440 | Biomarker | HPO | |||||||||||
|
|
0.420 | Biomarker | HPO | |||||||||||
|
|
0.410 | Biomarker | HPO |